SHH, sonic hedgehog signaling molecule, 6469

N. diseases: 303; N. variants: 44
Disease: Schizencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.410 GeneticVariation disease BEFREE Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly. 20157829 2010
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.410 Biomarker disease GENOMICS_ENGLAND Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. 12503095 2003
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.410 Biomarker disease GENOMICS_ENGLAND
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.410 Biomarker disease HPO